Results 71 to 80 of about 118,435 (261)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Report of one case with de novo mutation in TLK2 and literature review

BMC Pediatrics
TLK2 variants were identified as the cause for several neurodevelopmental disorders by impacting brain development. The incidence of mutation in TLK2 is low, which has common clinical features with other rare diseases.
Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou   +3 more
doaj   +1 more source

Adult Incidence in the Russian European Arctic with Developed Mining and Metallurgical Industry (en)

Российская Арктика, 2019
The purpose of the research. The research aims to assess the adult incidence within the mining complex in the Murmansk Region (the Russian Arctic). Materials and methods.
A. N. Nikanov, V.M. Dorofeev, L.V. Talykova, N.V. Sturlis, I.V. Gushin   +4 more
doaj   +1 more source

[The impact of smoking on diseases of the genitourinary system].

Wiadomosci lekarskie (Warsaw, Poland : 1960), 2015
The fight against smoking is now one of the priorities of the health system. This habit is one of the most serious threats of the modern world, both for health as also socioeconomic reasons. Smoking has a harmful proven action on the human body, causing cardiovascular, digestive or neurological diseases. Tobacco smoke contains more than 40 carcinogenic
Marcin, Zyczkowski, Rafal, Bogacki, Andrzej, Paradysz   +2 more
openaire   +1 more source

The features of repeated disability of the adult population as a result diseases of the genitourinary system in 2015-2019

Medical and Social Expert Evaluation and Rehabilitation, 2019
The analysis of repeated disability of the adult population as a result of diseases of the genitourinary system in Moscow in comparison with the indicators of the Central Federal District and the Russian Federation for the period 2015-2019 revealed that extensive and intensive indicators of repeated disability in Moscow are lower than in the Central ...
Ganna M. Calacheva, Sergey P. Zapariy, Sergey N. Puzin   +2 more
openaire   +1 more source

Altered Nasal Microbiota in Sinonasal Tumors: A Comparative Analysis of Malignant and Benign Sinonasal Tumors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Although shifts in nasal microbiota have been well‐documented in inflammatory upper airway conditions, microbiota tumor‐associated alterations remain uncharacterized. This study is the first to compare sinonasal microbiota profiles of patients with malignant tumors (MT), benign tumors (BT), and controls, offering insights into tumor‐
Evan A. Patel, Phillip A. Engen, Glen D. Souza, Sarah Khalife, Donyea Moore, Lauren Kret, Pedro Escobedo, Stefan J. Green, Ankur Naqib, Peter Filip, Peter Papagiannopoulos, Bobby A. Tajudeen, Mahboobeh Mahdavinia, Pete S. Batra   +13 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source

Morbidity and prevalence of the genitourinary system diseases in children in the Udmurt Republic

Kazan medical journal, 2012
Aim. To identify the pattern of distribution of nephropathy in a limited population (living in the same area) with the same risk factors ratio for the development of this disease. Methods. Conducted was an analysis of annual statistical reports of the nephrological morbidity in the Udmurt Republic, covering 306,355 children ...
openaire   +2 more sources

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source